Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy
Por:
Casas-Alba D, Aguilar A, Alonso I, García MT, Cilio MR and Fons-Estupina C
Publicada:
1 jul 2023
Ahead of Print:
1 abr 2023
Resumen:
Background: We aim to describe a cohort of patients with KCNQ2-related epilepsy and evaluate the relationship between epileptic activity and developmental outcome. This topic is relevant for the se-lection of clinical end points in future clinical trials, since cessation of seizures may or may not be the most important outcome. Methods: This retrospective cohort study of children with self-limited (familial) neonatal epilepsy and developmental and epileptic encephalopathy due to pathogenic variants in KCNQ2 was conducted be-tween 2019 and 2021. We collected clinical, therapeutic, and genetic information. Available electroen-cephalographic recordings were reviewed by a neurophysiologist. Gross motor function was determined using the Gross Motor Function Classification System (GMFCS). The Vineland Adaptive Behavior Com-posite standard score (ABC SS) was used to measure adaptive functioning. Results: Among 44 children (mean age 8.1 +/- 4.0 years, 45.5% were male), 15 of 44 had S(F)NE, and 29 of 44 had DEE. Delayed seizure freedom was more frequent in DEE than in S(F)NE (P = 0.025), but no correlation was observed between age at seizure freedom and developmental outcome in patients with DEE. Multifocal interictal epileptiform abnormalities at epilepsy onset were more frequent in DEE than in S(F)NE (P = 0.014), and were associated with higher GMFCS (P = 0.027) and lower ABC SS (P = 0.048) in patients with DEE. Disorganized background activity at follow-up was more frequent in DEE than in S(F)NE (P = 0.001), and was associated with higher GMFCS levels (P = 0.009) and lower ABC SS (P = 0.005) in patients with DEE. Conclusions: This study shows a partial correlation between epileptic activity and developmental outcome in KCNQ2-related epilepsy. (c) 2023 Elsevier Inc. All rights reserved.
Filiaciones:
Casas-Alba D:
Pediatric Neurology Department, Hospital Sant Joan de Déu, Full Member of ERN EpiCare, Barcelona University, Barcelona, Spain
Institut de Recerca Sant Joan de Déu, Barcelona, Spain
Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona University, Barcelona, Spain
Aguilar A:
Pediatric Neurology Department, Hospital Sant Joan de Déu, Full Member of ERN EpiCare, Barcelona University, Barcelona, Spain
Institut de Recerca Sant Joan de Déu, Barcelona, Spain
Alonso I:
Pediatric Neurology Department, Hospital Sant Joan de Déu, Full Member of ERN EpiCare, Barcelona University, Barcelona, Spain
García MT:
Pediatric Neurology Unit, Hospital Infantil Universitario Miguel Servet, Zaragoza, Spain
Cilio MR:
Division of Pediatric Neurology, Saint-Luc University Hospital, Catholic University of Louvain, Brussels, Belgium
Fons-Estupina C:
Pediatric Neurology Department, Hospital Sant Joan de Déu, Full Member of ERN EpiCare, Barcelona University, Barcelona, Spain
Institut de Recerca Sant Joan de Déu, Barcelona, Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
Open Access
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